Linked Data
dbSNP Id:
rs1278265062
gnomAD v2:
16-74808454-T-A
gnomAD v3:
16-74774556-T-A
gnomAD v4:
16-74774556-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774556T>A , CM000678.2:g.74774556T>A | GRCh38 |
| NC_000016.9:g.74808454T>A , CM000678.1:g.74808454T>A | GRCh37 |
| NC_000016.8:g.73365955T>A | NCBI36 |
| NG_017070.1:g.5276A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.200A>T MANE Select | ENSP00000219368.3:p.His67Leu | |
| ENST00000219368.7:c.200A>T | ENSP00000219368.3:p.His67Leu | |
| ENST00000567683.5:c.200A>T | ENSP00000455126.1:p.His67Leu | |
| NM_024306.4:c.200A>T | NP_077282.3:p.His67Leu | |
| XM_011523317.1:c.200A>T | XP_011521619.1:p.His67Leu | |
| XM_011523318.1:c.200A>T | XP_011521620.1:p.His67Leu | |
| XM_011523317.3:c.200A>T | XP_011521619.1:p.His67Leu | |
| NM_024306.5:c.200A>T MANE Select | NP_077282.3:p.His67Leu |